Guidance

Overview

Updated 19 February 2024

Applies to England

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This publication is available at https://www.gov.uk/government/publications/fetal-anomaly-screening-programme-handbook/overview

In this guidance, we use the terms ‘woman’ and ‘women’ to refer to anyone able to become pregnant, including trans men. Trans men who are pregnant should be offered the same antenatal and newborn screening tests as other pregnant individuals.

Throughout this guidance, Down’s syndrome is referred to as trisomy 21 (T21) (see section 4.1), Edwards’ syndrome is referred to as trisomy 18 (T18) (see section 4.2) and Patau’s syndrome is referred to as trisomy 13 (T13) (see section 4.3).

The NHS FASP first trimester combined screening test is referred to as the combined test (see section 1 in Screening for Down’s syndrome, Edward’s syndrome and Patau’s syndrome). The NHS FASP second trimester quadruple screening test is referred to as the quadruple test (see section 2 in ‘Screening for Down’s syndrome, Edward’s syndrome and Patau’s syndrome’).

The combined test assesses a pregnant woman’s chance of having a baby with T21, T18 or T13.

The quadruple test is offered when a woman is too late for the combined test or the nuchal translucency (NT) measurement (see section 4.3 of ‘Screening for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome’) cannot be obtained. This test assesses the chance of the baby having T21 only.

The 20-week screening scan screens for 11 physical conditions (see section 4.4).

Generic information in this handbook refers to singleton pregnancies.

There are specific sections with information on screening in twin pregnancies (see section 7 in ‘Screening for Down’s syndrome, Edward’s syndrome and Patau’s syndrome’) and in-vitro fertilisation (IVF) pregnancies (see section 8 in ‘Screening for Down’s syndrome, Edward’s syndrome and Patau’s syndrome’).

1. Governance

NHS population screening explained sets out the general principles of screening.

The UK National Screening Committee (UK NSC) makes recommendations on screening policy.

NHS England (NHSE):

  • provides national consistency
  • sets screening standards and quality assures the screening pathways
  • supports and advises on implementation of the screening programme in the NHS
  • makes sure programmes are using and implementing the most up-to-date evidence

The NHS FASP has a governance structure that reports to the NHSE director for vaccinations and screening. It has advisory groups that support specific work streams and projects. The chairs of these groups report to the NHS FASP advisory board which provides advice and constructive challenge.

The role of the NHS FASP advisory board is to:

Providers should adhere to the latest national FASP documentation and guidance published on GOV.UK. All providers must have a process in place to make sure all relevant information is cascaded.

2. Screening pathways

The NHS FASP requires equal access to uniform and quality-assured screening to be offered to all eligible pregnant women in England. Services should provide women with high quality information, so they can make a personal informed choice (see section 3) about their screening and pregnancy options.

Trans men who are pregnant should be offered NHS FASP screening tests the same as other pregnant individuals. There is no evidence to say the tests perform better or worse in this population.

There are 2 NHS FASP screening pathways. These are:

To enable commissioners and SQAS teams to assess the quality of services, the NHS FASP has:

2.1 Down’s syndrome, Edwards’ syndrome and Patau’s syndrome screening pathway

National policy is to offer screening to assess the chance of the baby being born with T21, T18 or T13. The test of choice for both singleton and twin pregnancies is the combined test.

With the combined test, women can choose:

  • not to have screening
  • to have screening for T21, T18 and T13
  • to have screening for T21 only
  • to have screening for T18 and T13 only

If a woman accepts the offer of screening, the eligibility criteria for the combined test is when the baby’s crown rump length (CRL) measurement is between 45.0mm and 84.0mm (see section 4.3 in Screening for Down’s syndrome, Edward’s syndrome and Patau’s syndrome). The blood sample can be taken from 10 weeks.

The quadruple test can be offered when the:

  • NT measurement cannot be obtained
  • CRL measurement is greater than 84.0mm

The eligibility criteria for the quadruple test is when the baby’s head circumference (HC) measurement is between 101.0mm and 172.0mm (see section 4.3 in ‘Screening for Down’s syndrome, Edward’s syndrome and Patau’s syndrome’). A blood sample is taken from 14+2 weeks. This test screens for T21 only.

Providers must have systems in place to return data for the coverage standard FASP-S01 (KPI FA3).

The NHS FASP offers non-invasive prenatal testing (NIPT) screening for T21, T18 and T13. NIPT is offered following a higher chance result (between 1 in 2 and 1 in 150) from either the NHS combined or quadruple test in both singleton and twin pregnancies.

Prenatal diagnosis (PND) is offered following higher chance results. This includes chorionic villus sampling (CVS) and amniocentesis.

2.2 20-week screening scan pathway

National policy is to offer a 20-week screening scan to screen for 11 physical conditions (see section 4.4 below). This ultrasound scan is offered between 18+0 and 20+6 weeks. If needed, this gives a woman the time to:

  • discuss PND and other options
  • have PND if chosen
  • consider pregnancy options

This screening pathway must be completed by 23+0 weeks. A confirmatory ultrasound scan or PND will be offered if a physical condition is identified or suspected.

3. Personal informed choice

It is important to support and respect personal informed choice. The woman’s choice should be clearly recorded in line with local guidelines. Some women may choose not to have screening.

Each woman offered screening should make a personal informed choice to accept or decline a screening test based on accessible, accurate and evidence-based information. This information should cover the:

  • conditions for which screening is offered
  • screening test process
  • risks and benefits of screening
  • limitations and uncertainties of screening
  • potential outcomes of screening and pregnancy options

Every pregnant woman should:

  • receive the Screening tests for you and your baby information at first contact; (easy guide versions and translated versions are available)
  • have a discussion with a healthcare professional about screening options
  • have time to think about accepting or declining screening and what the possible results might mean

Local guidance should be in place to support a woman who declines the offer of screening. The woman’s choice must be respected.

Personal informed choices can change during pregnancy. Women who initially accept or decline screening can change their mind at any point along the screening pathway. If women are still eligible for screening, local guidance must be in place to support this decision and allow access to the screening tests.

Midwives are responsible for explaining national information on screening at first contact.

Ultrasound practitioners are responsible for checking the woman’s understanding of the purpose of the ultrasound scan.

A local pathway should be in place for women who need more information at the point of screening. For example, there needs to be a process to allow women to have further discussion with a healthcare professional when they attend the ultrasound scan but do not understand its purpose. This process should not impact on the woman’s eligibility for screening.

There must be recorded evidence, at both the offer of screening and the ultrasound scan, of:

  • all screening discussions
  • the decision to accept or decline screening
  • the choice of screening test

All healthcare professionals are responsible for recording the woman’s decision clearly and accurately in line with local guidelines.

4. Conditions screened for

The NHS FASP offers screening to all eligible pregnant women in England to assess the chance of their baby being born with T21, T18 or T13 and a number of physical conditions.

Inside the cells of our bodies there are tiny structures called chromosomes. These chromosomes carry the genes that determine how we develop. Cells in the human body typically contain 46 chromosomes. Changes that occur in the sperm or egg cells can lead to a baby having an extra chromosome.

4.1 Down’s syndrome (T21)

People with Down’s syndrome have an extra chromosome 21 in the cells of their body.

A person with Down’s syndrome will have some level of learning disability. This means they will find it harder than most people to understand and learn new things. They may have challenges with communication and managing some everyday tasks. People with Down’s syndrome have distinctive facial features, but they do not all look the same. Most children with Down’s syndrome attend mainstream schools but will require additional support.

Some health conditions are more common in people with Down’s syndrome. These include heart conditions and problems with hearing and vision. Many health conditions can be treated but, unfortunately, around 5% of babies with Down’s syndrome will not live past their first birthday.

For babies without serious health conditions, survival is similar to that of other children. People with Down’s syndrome can live into their 60s or longer.

People with Down’s syndrome can have a good quality of life and most say they enjoy their lives. With support, many people with Down’s syndrome are able to get jobs, have relationships and live semi-independently in adulthood.

4.2 Edwards’ syndrome (T18)

Babies with Edwards’ syndrome have an extra copy of chromosome 18 in all or some cells.

Sadly, survival rates are low. Of those babies born alive only around 13% live past their first birthday. Some babies may survive to adulthood, but this is rare.

All babies born with Edwards’ syndrome will have learning disabilities and a wide range of health challenges, some of which can be extremely serious. They may have problems with their heart, respiratory system, kidneys or digestive system.

Babies with Edwards’ syndrome may have a low birthweight.

Despite the challenges, children with Edwards’ syndrome can slowly make progress in their development. Older children will need to attend a specialist school.

4.3 Patau’s syndrome (T13)

Babies with Patau’s syndrome have an extra copy of chromosome 13 in all or some cells.

Sadly, survival rates are low. Of those babies born alive only around 11% live past their first birthday. Some babies may survive to adulthood, but this is rare.

All babies born with Patau’s syndrome will have learning disabilities and a wide range of health challenges, some of which can be extremely serious. They may have problems with their heart, respiratory system, kidneys or digestive system.

Around half of babies with Patau’s syndrome will have a cleft lip and palate. Babies with Patau’s syndrome may also have a low birthweight.

Despite the challenges, children with Patau’s syndrome can slowly make progress in their development. Older children will need to attend a specialist school.

4.4 Physical conditions

The 11 physical conditions screened for at the 20-week screening scan in England are:

5. Information for the public

The following information is available for pregnant women:

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